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IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
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A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.
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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
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FMRP targets distinct mRNA sequence elements to regulate protein expression.
Ascano M Jr, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, Williams Z, Ohler U, Tuschl T.
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Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).
Jennings M, Hall JG, Hoehn H.
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